Linked Data
ClinVar Variation Id:
13122
ClinVar RCV Id:
RCV000014002
dbSNP Id:
rs121917740
gnomAD v4:
1-204155078-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.204155078G>A , CM000663.2:g.204155078G>A | GRCh38 |
| NC_000001.10:g.204124206G>A , CM000663.1:g.204124206G>A | GRCh37 |
| NC_000001.9:g.202390829G>A | NCBI36 |
| NG_012122.1:g.16260C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272190.9:c.1159C>T MANE Select | ENSP00000272190.8:p.Arg387Ter | |
| ENST00000638118.1:c.1045C>T | ENSP00000490307.1:p.Arg349Ter | |
| ENST00000272190.8:c.1159C>T | ENSP00000272190.8:p.Arg387Ter | |
| NM_000537.3:c.1159C>T | NP_000528.1:p.Arg387Ter | |
| NM_000537.4:c.1159C>T MANE Select | NP_000528.1:p.Arg387Ter |